Original source

Variants (including SNPs and indels) imported from dbSNP (release 144)|View in dbSNP

Alleles
A/T|Ancestral: A|Ambiguity code: W
Location

Chromosome 16:23634893 (forward strand)|View in location tab

Co-located variants

HGMD-PUBLIC CM070241 ; PhenCode PALB2:c.1653T>A (A/T)

Most severe consequence
 
Stop gained
Evidence status

Clinical significance

Synonyms

LSDB 16730, NM_024675.3:c.1653T>A

HGVS names

This variant has 9 HGVS names - Hide

16:g.23634893A>T
ENST00000565038.1:c.86+2957T>A
ENST00000568219.5:c.768T>A
ENSP00000454703.2:p.Tyr256Ter
ENST00000261584.8:c.1653T>A
ENSP00000261584.4:p.Tyr551Ter
LRG_308:g.11465T>A
LRG_308t1:c.1653T>A
LRG_308p1:p.Tyr551Ter

About this variant

This variant overlaps 6 transcripts, is associated with 2 phenotypes and is mentioned in 1 citation.

Variant displays